The GenCC develops consistent terminology for describing gene-disease validity. As part of the GenCC we aligned our existing terms to the new terminology.
Please find out more about the update here.
For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
FGFR2 | monoallelic_autosomal | altered gene product structure | LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME | DD | |
FGFR2 | monoallelic_autosomal | altered gene product structure | ANTLEY-BIXLER SYNDROME | DD | |
FGFR2 | monoallelic_autosomal | altered gene product structure | JACKSON-WEISS SYNDROME | DD,Skin | |
FGFR2 | monoallelic_autosomal | altered gene product structure | BEARE-STEVENSON CUTIS GYRATA SYNDROME | DD,Skin | |
FGFR2 | monoallelic_autosomal | altered gene product structure | APERT SYNDROME | DD,Skin | |
FGFR2 | monoallelic_autosomal | altered gene product structure | CROUZON SYNDROME | DD,Skin | |
FGFR2 | monoallelic_autosomal | altered gene product structure | ACROCEPHALOSYNDACTYLY TYPE V | DD,Skin | |
FGFR2 | mitochondrial | uncertain | LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME | Eye | |
FGFR2 | monoallelic_autosomal | altered gene product structure | Cutis gyrata Beare stevenson | Skin | |
FGFR2 | monoallelic_autosomal | uncertain | LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME | Skin |